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![]() | Open reading frame (ORF) annotation in the exon skipping event |
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![]() | 3'-UTR located exon skipping events lost miRNA binding sites |
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![]() | Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for BAK1 |
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Gene information | Gene symbol | BAK1 | Gene ID | 578 |
Gene name | BCL2 antagonist/killer 1 | |
Synonyms | BAK|BAK-LIKE|BCL2L7|CDN1 | |
Cytomap | 6p21.31 | |
Type of gene | protein-coding | |
Description | bcl-2 homologous antagonist/killerBCL2-like 7 proteinapoptosis regulator BAKbcl-2-like protein 7bcl2-L-7pro-apoptotic protein BAK | |
Modification date | 20200315 | |
UniProtAcc | ||
Context |
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Gene | GO ID | GO term | PubMed ID |
BAK1 | GO:0001836 | release of cytochrome c from mitochondria | 9843949|16199525 |
BAK1 | GO:0006915 | apoptotic process | 23028632 |
BAK1 | GO:0010248 | establishment or maintenance of transmembrane electrochemical gradient | 9843949 |
BAK1 | GO:0031334 | positive regulation of protein complex assembly | 9111042 |
BAK1 | GO:0045862 | positive regulation of proteolysis | 18387192 |
BAK1 | GO:0046902 | regulation of mitochondrial membrane permeability | 9843949|21041309 |
BAK1 | GO:0051881 | regulation of mitochondrial membrane potential | 9843949 |
BAK1 | GO:0097202 | activation of cysteine-type endopeptidase activity | 18387192 |
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Gene structures and expression levels for BAK1 |
![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
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Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for BAK1 |
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Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
exon_skip_142038 | chr6 | 33574034:33574214:33574506:33574525:33575298:33575441 | 33574506:33574525 |
exon_skip_293834 | chr6 | 33575298:33575441:33575793:33575928:33577535:33577635 | 33575793:33575928 |
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Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
exon_skip_142038 | Mayo_TC | 2.517073e-01 | 3.676712e-01 | -1.159639e-01 | 1.318848e-04 |
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Open reading frame (ORF) annotation in the exon skipping event for BAK1 |
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ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000374467 | 33575793 | 33575928 | Frame-shift |
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ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000374467 | 33575793 | 33575928 | Frame-shift |
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ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000374467 | 33575793 | 33575928 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for BAK1 |
p-ENSG00000030110_img4.png![]() |
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ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
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ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
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ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
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UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
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UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
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UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
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3'-UTR located exon skipping events that lost miRNA binding sites in BAK1 |
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Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for BAK1 |
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Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
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Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
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AD stage-associated exon skippint events for BAK1 |
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AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for BAK1 |
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Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for BAK1 |
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Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
CB | NUP42 | exon_skip_142038 | 4.261916e-01 | 3.569471e-08 |
HCC | RBM6 | exon_skip_142038 | -4.102001e-01 | 2.225379e-10 |
TC | NUP42 | exon_skip_142038 | 5.407546e-01 | 3.779088e-13 |
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RelatedDrugs for BAK1 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for BAK1 |
![]() (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |